Incidental Mutation 'R6016:Tnks1bp1'
ID 478588
Institutional Source Beutler Lab
Gene Symbol Tnks1bp1
Ensembl Gene ENSMUSG00000033955
Gene Name tankyrase 1 binding protein 1
Synonyms TAB182
MMRRC Submission 043255-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6016 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 84878366-84903392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84882734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 187 (L187P)
Ref Sequence ENSEMBL: ENSMUSP00000107232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111605]
AlphaFold P58871
Predicted Effect probably damaging
Transcript: ENSMUST00000111605
AA Change: L187P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: L187P

DomainStartEndE-ValueType
low complexity region 37 44 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
low complexity region 496 518 N/A INTRINSIC
low complexity region 739 758 N/A INTRINSIC
low complexity region 954 960 N/A INTRINSIC
low complexity region 1471 1489 N/A INTRINSIC
low complexity region 1530 1537 N/A INTRINSIC
Tankyrase_bdg_C 1545 1717 1.98e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151092
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9b T C 15: 77,620,058 (GRCm39) S285P probably damaging Het
Casz1 C A 4: 149,019,041 (GRCm39) N447K probably damaging Het
Cltb T C 13: 54,754,480 (GRCm39) T71A possibly damaging Het
Dcaf12 A G 4: 41,313,267 (GRCm39) F93L probably damaging Het
Dnah5 T C 15: 28,328,030 (GRCm39) Y2135H probably damaging Het
Entpd2 C T 2: 25,288,568 (GRCm39) R191W probably damaging Het
Gm17067 G T 7: 42,357,654 (GRCm39) P283T probably benign Het
Gm3250 A G 10: 77,618,367 (GRCm39) probably benign Het
Gne T C 4: 44,039,063 (GRCm39) E532G probably damaging Het
Gsdmc3 T G 15: 63,740,261 (GRCm39) D86A probably benign Het
Hs3st2 A G 7: 121,099,922 (GRCm39) H256R probably damaging Het
Il19 T A 1: 130,863,718 (GRCm39) D16V probably damaging Het
Lats2 A T 14: 57,971,632 (GRCm39) N14K probably damaging Het
Mill2 G T 7: 18,590,373 (GRCm39) S151I probably benign Het
Ncapg2 G A 12: 116,390,227 (GRCm39) R392H probably damaging Het
Nop56 T C 2: 130,118,545 (GRCm39) probably null Het
Or14j8 A T 17: 38,262,967 (GRCm39) V316D probably benign Het
Or2bd2 A T 7: 6,443,613 (GRCm39) H238L probably benign Het
Or5p5 A T 7: 107,414,219 (GRCm39) I143F probably benign Het
Pde1a T C 2: 79,695,406 (GRCm39) R446G probably benign Het
Pes1 T A 11: 3,928,004 (GRCm39) M552K possibly damaging Het
Plxnb2 T A 15: 89,045,225 (GRCm39) T1074S possibly damaging Het
Psg23 G T 7: 18,346,112 (GRCm39) H194Q probably benign Het
Rprd2 A G 3: 95,694,685 (GRCm39) V116A probably damaging Het
Shkbp1 A G 7: 27,053,826 (GRCm39) V124A possibly damaging Het
Slc38a8 A T 8: 120,221,044 (GRCm39) probably null Het
Slitrk6 A G 14: 110,987,958 (GRCm39) V583A probably benign Het
Sptbn5 G T 2: 119,880,573 (GRCm39) noncoding transcript Het
Stab1 A T 14: 30,880,950 (GRCm39) I614N probably damaging Het
Tgm6 A G 2: 129,983,148 (GRCm39) T246A probably damaging Het
Vmn1r157 A G 7: 22,461,272 (GRCm39) R51G possibly damaging Het
Vmn2r68 A T 7: 84,871,453 (GRCm39) I610K probably damaging Het
Other mutations in Tnks1bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Tnks1bp1 APN 2 84,892,580 (GRCm39) nonsense probably null
IGL00974:Tnks1bp1 APN 2 84,893,226 (GRCm39) missense possibly damaging 0.86
IGL01874:Tnks1bp1 APN 2 84,888,791 (GRCm39) missense probably benign 0.01
IGL02419:Tnks1bp1 APN 2 84,902,125 (GRCm39) missense possibly damaging 0.60
IGL02441:Tnks1bp1 APN 2 84,902,143 (GRCm39) missense probably damaging 1.00
IGL02475:Tnks1bp1 APN 2 84,889,721 (GRCm39) missense probably damaging 1.00
IGL03181:Tnks1bp1 APN 2 84,893,058 (GRCm39) missense probably benign 0.00
K3955:Tnks1bp1 UTSW 2 84,892,755 (GRCm39) missense probably benign 0.01
P0038:Tnks1bp1 UTSW 2 84,892,755 (GRCm39) missense probably benign 0.01
PIT4791001:Tnks1bp1 UTSW 2 84,892,902 (GRCm39) missense probably benign 0.03
R0068:Tnks1bp1 UTSW 2 84,892,696 (GRCm39) missense probably benign 0.12
R0068:Tnks1bp1 UTSW 2 84,892,696 (GRCm39) missense probably benign 0.12
R0164:Tnks1bp1 UTSW 2 84,889,565 (GRCm39) missense possibly damaging 0.94
R0164:Tnks1bp1 UTSW 2 84,889,565 (GRCm39) missense possibly damaging 0.94
R0189:Tnks1bp1 UTSW 2 84,901,273 (GRCm39) missense possibly damaging 0.77
R0454:Tnks1bp1 UTSW 2 84,902,481 (GRCm39) missense probably damaging 1.00
R0650:Tnks1bp1 UTSW 2 84,892,974 (GRCm39) missense possibly damaging 0.68
R0737:Tnks1bp1 UTSW 2 84,882,880 (GRCm39) missense possibly damaging 0.93
R1718:Tnks1bp1 UTSW 2 84,902,082 (GRCm39) missense probably benign 0.44
R1749:Tnks1bp1 UTSW 2 84,893,411 (GRCm39) missense probably benign
R2194:Tnks1bp1 UTSW 2 84,893,409 (GRCm39) missense probably benign 0.06
R2314:Tnks1bp1 UTSW 2 84,889,259 (GRCm39) missense probably benign 0.01
R2379:Tnks1bp1 UTSW 2 84,894,182 (GRCm39) missense probably benign 0.16
R3056:Tnks1bp1 UTSW 2 84,900,344 (GRCm39) nonsense probably null
R3433:Tnks1bp1 UTSW 2 84,901,360 (GRCm39) splice site probably benign
R3751:Tnks1bp1 UTSW 2 84,889,066 (GRCm39) start gained probably benign
R4502:Tnks1bp1 UTSW 2 84,892,991 (GRCm39) nonsense probably null
R4694:Tnks1bp1 UTSW 2 84,902,066 (GRCm39) missense probably damaging 1.00
R4785:Tnks1bp1 UTSW 2 84,893,378 (GRCm39) missense probably damaging 1.00
R5079:Tnks1bp1 UTSW 2 84,892,970 (GRCm39) missense probably damaging 1.00
R5208:Tnks1bp1 UTSW 2 84,900,976 (GRCm39) missense probably damaging 0.96
R5265:Tnks1bp1 UTSW 2 84,893,098 (GRCm39) missense probably benign 0.01
R5512:Tnks1bp1 UTSW 2 84,893,178 (GRCm39) missense probably benign 0.00
R5557:Tnks1bp1 UTSW 2 84,894,144 (GRCm39) missense probably damaging 0.97
R6177:Tnks1bp1 UTSW 2 84,889,624 (GRCm39) start gained probably benign
R6516:Tnks1bp1 UTSW 2 84,901,071 (GRCm39) missense probably damaging 0.97
R6517:Tnks1bp1 UTSW 2 84,889,689 (GRCm39) missense probably benign 0.00
R7032:Tnks1bp1 UTSW 2 84,892,297 (GRCm39) missense probably benign 0.00
R7120:Tnks1bp1 UTSW 2 84,902,441 (GRCm39) missense probably damaging 1.00
R7302:Tnks1bp1 UTSW 2 84,882,698 (GRCm39) missense probably benign 0.24
R7393:Tnks1bp1 UTSW 2 84,893,210 (GRCm39) missense probably benign
R7535:Tnks1bp1 UTSW 2 84,893,624 (GRCm39) nonsense probably null
R7596:Tnks1bp1 UTSW 2 84,893,057 (GRCm39) missense probably benign 0.14
R7680:Tnks1bp1 UTSW 2 84,889,585 (GRCm39) missense probably benign 0.36
R8345:Tnks1bp1 UTSW 2 84,893,226 (GRCm39) missense possibly damaging 0.86
R8413:Tnks1bp1 UTSW 2 84,892,622 (GRCm39) missense probably damaging 1.00
R8768:Tnks1bp1 UTSW 2 84,900,980 (GRCm39) nonsense probably null
R8936:Tnks1bp1 UTSW 2 84,894,320 (GRCm39) missense probably benign 0.00
R8991:Tnks1bp1 UTSW 2 84,894,290 (GRCm39) missense probably benign 0.00
R9007:Tnks1bp1 UTSW 2 84,901,048 (GRCm39) missense probably damaging 1.00
R9118:Tnks1bp1 UTSW 2 84,893,720 (GRCm39) missense probably damaging 1.00
R9709:Tnks1bp1 UTSW 2 84,902,125 (GRCm39) missense probably benign 0.00
R9732:Tnks1bp1 UTSW 2 84,889,727 (GRCm39) missense probably damaging 1.00
Z1176:Tnks1bp1 UTSW 2 84,893,874 (GRCm39) missense probably damaging 0.99
Z1177:Tnks1bp1 UTSW 2 84,889,347 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTTACCCAAGAGTCTGGGAAGG -3'
(R):5'- TGAGCCCACTTCCTCCATAG -3'

Sequencing Primer
(F):5'- AGAAGACTTGCCCCCTCTC -3'
(R):5'- TAGCCCCTTTAAGACTTCAAGG -3'
Posted On 2017-06-26